DOI: 10.3310/nihropenres.14288.1 ISSN: 2633-4402

A multidimensional profile of dysphagia in myotonic dystrophy type 1: a cross-sectional study protocol

Jodi Allen, Tom Parry, Roganie Govender, Christina Smith, , Sue Mallett, Stuart Taylor
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Introduction Dysphagia is associated with an increased risk of respiratory failure and pneumonia in people living with myotonic dystrophy type 1 (DM1). Additional consequences include malnutrition, dehydration, and occasional sudden death from choking. Currently, no evidence-based assessment and treatment protocols for dysphagia exist in DM1. This gap in clinical guidance raises concerns about delayed diagnosis, inadequate care programmes, and variability in service provision, all of which detract from optimal patient outcomes and impose substantial costs on individuals and the healthcare system. This study protocol describes the methodology used to characterise the multidimensional profile of dysphagia in DM1 through the investigation of morphometric changes in swallowing-related muscles and their associations with biomechanical function, swallowing-related strength and performance, patient symptoms, quality of life, physical activity levels, and other disease-affected systems of DM1. Methods and analysis This cross-sectional study will assess dysphagia in adults with DM1 presenting with neuromuscular symptom onset between 14 and 40 years of age. Participants will complete a comprehensive assessment battery structured around the International Classification of Functioning, Disability and Health (ICF) framework, encompassing body structure and function, activity, and participation domains. Assessments will include quantitative muscle ultrasound (QMUS) to evaluate morphometric changes in swallowing-related musculature, performance-based measures of swallowing function and strength, and both clinician- and patient-reported outcome measures spanning swallowing and non-swallowing domains. Age- and sex-matched healthy controls and caregivers will be recruited as comparator groups. Data analysis will be conducted by a medical statistician and will include descriptive statistics, graphical exploration, and linear regression to examine associations between variables. Discussion This is the first study to systematically characterise the multidimensional profile of dysphagia in DM1 and will provide valuable data to inform the development of evidence-based assessment and treatment guidelines in this population.

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